Multiomics in the Era of Translational and Precision Medicine

Genomics has provided actionable clinical information, helping diagnose rare diseases, identify tumor mutations linked to treatment resistance, and find new drug targets.

But clinicians often face a problem: two tumors with the same mutation can respond differently to chemotherapy, and two patients with the same symptoms can carry entirely different DNA alterations.

The reason lies in the complexity of disease regulation. Changes in splicing, transcription,...

Foundation, co-evolution with NGS, and impact

Population genomics is the use of DNA data from entire populations to understand the genetic makeup of a group of individuals, human or otherwise. We previously covered the basics of population genomics and how next-generation sequencing (NGS) expanded the field here.¹ Since then, population genomics has co-evolved with NGS to achieve measurable impacts in several areas.

This article will cover:

● How...

Cancer is increasingly understood as an ecosystem in which tumor cells co-evolve with immune, stromal, and vascular components of the surrounding tumor microenvironment (TME). These interactions affect disease progression, therapeutic response, and the emergence of resistance. Yet, the molecular mechanisms underlying these processes have long been difficult to resolve. Next-generation sequencing (NGS) technologies now enable high-resolution analysis of this dynamic landscape....

Synthetic biology has advanced quickly in the last decade, and a lot of that is because of next-generation sequencing (NGS). In synthetic biology, engineering principles are applied to biological systems, to modify or create new biological organisms or molecules. Because of this, the working paradigm is the design-build-test-learn (DBTL) cycle.

With the instructions to every organism, system, or molecule being encoded in DNA, NGS is crucial...

Current NGS technologies easily deliver terabases of data in a single run. At the same time, AI is on the rise, with many touting its potential for handling complex, high-volume information. In this article, we will break down how AI models are being implemented in NGS from primary to tertiary analysis, and whether they pose an advantage in accuracy, speed, and genomic insights.

Basecalling: where chemistry determines impact

Basecalling is a foundational step...

The Human Genome Project generated the human reference genome over 13 years at a cost of $3 billion.¹ That massive undertaking used the low-throughput Sanger method, which sequences one DNA fragment at a time. While this strategy remains useful for interrogating small genomic regions, modern next-generation sequencing (NGS) technologies can simultaneously sequence millions of fragments in a single run, enabling the analysis of hundreds to thousands of genes at once.

Today, rapid...

Spatial transcriptomic technologies offer multiple paths for measuring gene expression within intact tissue, each defined by distinct technical and practical tradeoffs that can impact experimental design. In a recent SEQanswers webinar, Michal Lipinski, Senior Scientist at the Broad Institute’s Spatial Technology Platform, provided a detailed overview of spatial transcriptomics to help researchers decide whether to invest in these methods and how to choose among available technologies....

Many people living with rare diseases spend years searching for answers.^1,2 The path to a correct diagnosis is filled with repeated tests, specialist referrals, and long stretches of uncertainty. This experience is widely known as the diagnostic odyssey, and it can be deeply frustrating for families who can’t begin appropriate care until they understand the cause of their condition. Christine Eng, M.D., Chief Medical Officer and Chief Quality Officer at Baylor Genetics, is among...

The American Society of Human Genetics (ASHG) 2025 annual meeting took place in Boston last week, opening with a presidential address by ASHG President Sarah Tishkoff. She honored former NIH Director Francis Collins for his decades of leadership and impact on the genetics community. Both Tishkoff and Collins reflected on the field’s progress and expressed optimism about new treatments for genetic diseases. They also urged scientists to advocate for restoring NIH funding amid the...

Single-cell RNA sequencing (scRNA-seq) provides unprecedented detail into complex cellular processes, with each experiment generating millions of reads that capture the transcriptional activity of millions of individual cells. This capability makes scRNA-seq powerful for studying complex systems, but also challenges researchers to translate the data into clear biological conclusions. To meet these analytical demands, robust computational tools have become essential for tasks such...